ArticleDiabetes2020
Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes.
Article in Diabetes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
95 citing papers in PubMed, 2 syntheses or guidelines pooled it, 150 citations in OpenAlex.
- Exploring the Potential Link Between Autoimmune Diseases and Pan-Cancer: A Multidatabase Mendelian Randomization Analysis.Journal of immunology research · 2025Pooled it
- Systemic inflammatory regulators and proliferative diabetic retinopathy: A bidirectional Mendelian randomization study.Frontiers in immunology · 2023Pooled it
- Vitamin D levels and risk of type 1 diabetes: A Mendelian randomization study.PLoS medicine · 2021Trial
- Explaining the unexplained admixture mapping signals via rare variants: the HCHS/SOL.Human molecular genetics · 2026Article
- Examining the role of insulin-like growth factor 1 in the pathophysiology of carpal tunnel syndrome: a Mendelian randomization study.International journal of epidemiology · 2026Article
- Development and validation of a trans-ancestry polygenic risk score for type 1 diabetes.Diabetologia · 2026Article
- Article
- Genome-scale mapping of variant, enhancer and gene function in primary human CD4+ T cells.bioRxiv : the preprint server for biology · 2026Article
- Integrative mendelian randomization approaches for therapeutic target prioritisation in immune-mediated diseases.Scientific reports · 2026Article
- Explaining the unexplained admixture mapping signals via rare variants: the HCHS/SOL.bioRxiv : the preprint server for biology · 2026Article
- The shared genetic architecture underlying the autoimmune and cardiovascular disease: a multivariate genome-wide analysis.Cardiovascular diabetology · 2026Article
- Deciphering CD4+ Naive T cell-mediated divergent pathogenic links between type 2 diabetes and pathologic scarring via an integrated multi-omics approach.International journal of surgery (London, England) · 2026Article
- N-palmitoyl glycine differentially modulates TRPM4 and TRPC5 and is causally linked to Brugada syndrome.Communications biology · 2025Article
- Immune cell-based transcriptomic Mendelian randomization and colocalization study on type 1 diabetes.BMC medicine · 2025Article
- Polygenic score from MODY genes is associated with type 1 diabetes and disease characteristics.Acta diabetologica · 2025Article
- Assessment of relationships between frailty and diabetes: A two-sample Mendelian randomization study.The Journal of international medical research · 2025Article
- Bidirectional Causal Associations Between Endogenous/Exogenous Antioxidant Levels and Risks of Type 1 and Type 2 Diabetes Mellitus and Three Complications.Food science & nutrition · 2025Article
- Association of Vitiligo With Autoimmune Disorders: A Bidirectional Two-Sample and Summary-Based Mendelian Randomization Study.Journal of cosmetic dermatology · 2025Article
- Dissecting the genetic basis and mechanisms underlying the associations between multiple extrahepatic factors and autoimmune liver diseases.Journal of translational autoimmunity · 2025Article
- A regulatory variant rs9379874 in T1D risk region 6p22.2 affects BTN3A1 expression regulating T cell function.Acta diabetologica · 2025Article
35 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 7 institutions in 4 countries.
Funding
Abstract
Most replicated genetic determinants for type 1 diabetes are common (minor allele frequency [MAF] >5%). We aimed to identify novel rare or low-frequency (MAF <5%) single nucleotide polymorphisms with large effects on risk of type 1 diabetes. We undertook deep imputation of genotyped data followed by genome-wide association testing and meta-analysis of 9,358 type 1 diabetes case and 15,705 control subjects from 12 European cohorts. Candidate variants were replicated in a separate cohort of 4,329 case and 9,543 control subjects. Our meta-analysis identified 27 independent variants outside the MHC, among which 3 were novel and had MAF <5%. Three of these variants replicated with
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.